The genetics of epiloia

Günther, Marie; Penrose, L. S.

doi:10.1007/bf02982409

Cited by 138 publications

(36 citation statements)

References 8 publications

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“…Therefore, let X be the progeny size of a pair of individuals and Y be the size of a cluster of mutants: X follows Poisson(2) and Y follows Binomial( X , r ). Then the average cluster size can be calculated by 1 1…”

Section: Resultsmentioning

confidence: 99%

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The Influence of Premeiotic Clusters of Mutation on Indirect Estimations of Mutation Rate

Gong¹,

Gu²,

Woodruff³

2005

Hum Hered

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Based on the hypothesis that rare alleles are in mutation and random loss equilibrium, mutation rate can be indirectly estimated by measuring the number of rare variants and the average existing time of a mutant allele. This method can be applied to estimate the mutation rate in humans. However, this estimation of mutation rate is affected by the presence of premeiotic clusters of mutation. Mutation clusters change both the number of initial mutants and the average existing time of a mutant allele. As a result, the formula indirectly estimating mutation rate should be modified. The influence of premeiotic clusters is more obvious when the population size is small or the average cluster size is big. For example, if the population size is 3,000 and average cluster size is two, instead of one, the mutation rate is increased by about 9.4%.

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Section: Resultsmentioning

confidence: 99%

“…This rate in humans has been measured by directly counting the number of mutant progeny out of the total progeny [1,2] . However, such direct measures of mutation rate are diffi cult, especially for higher organisms, due to the low frequency of new mutant alleles.…”

Section: Introductionmentioning

confidence: 99%

The Influence of Premeiotic Clusters of Mutation on Indirect Estimations of Mutation Rate

Gong¹,

Gu²,

Woodruff³

2005

Hum Hered

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“…Gunther and Penrose described the autosomal dominant pattern of inheritance of TSC in 1935 3. We now know that there are two genes (and probably only two) causing the TSC clinical phenotype.…”

Section: Genetic Heterogeneity Of Tscmentioning

confidence: 99%

Recent advances: Advances in the understanding of tuberous sclerosis

O'Callaghan

Osborne

2000

Archives of Disease in Childhood

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“…Hamartomas are distinguished by the additional feature of abnormal cellular proliferation. Dominant inheritance of this disorder was first reported by Gunther and Penrose (1935). Criteria for definitive and presumptive diagnoses of TSC have been established (Gomez, 1988).…”

Section: Introductionmentioning

confidence: 99%

“…Estimations of the frequency of new mutations have varied from 1 in 60,000 (Gunther and Penrose, 1935) to 1 in 84,000 live births (Singer, 1971). Accurate assessments of the percentage of cases that represent new mutations and of the degree of penetrance of TSC are not realistic at this time, given the limitations of clinical examination, CT scans, and magnetic resonance imaging.…”

Section: Introductionmentioning

confidence: 99%